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Protein-coding gene in the species Homo sapiens
FERM and PDZ domain containing 2 is a protein that in humans is encoded by the FRMPD2 gene .
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This gene encodes a peripheral membrane protein and is located in a region of chromosome 10q that contains a segmental duplication . This copy of the gene is full-length and is in the telomeric duplicated region. Two other more centromerically proximal copies of the gene are partial and may represent pseudogenes . This full-length gene appears to function in the establishment and maintenance of cell polarization . The protein is recruited to cell-cell junctions in an E-cadherin -dependent manner, and is selectively localized at the basolateral membrane in polarized epithelial cells . Alternative splicing results in multiple transcript variants .
Grupe A, Li Y, Rowland C, Nowotny P, Hinrichs AL, Smemo S, Kauwe JS, Maxwell TJ, Cherny S, Doil L, Tacey K, van Luchene R, Myers A, Wavrant-De Vrièze F, Kaleem M, Hollingworth P, Jehu L, Foy C, Archer N, Hamilton G, Holmans P, Morris CM, Catanese J, Sninsky J, White TJ, Powell J, Hardy J, O'Donovan M, Lovestone S, Jones L, Morris JC, Thal L, Owen M, Williams J, Goate A (2006). "A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease" . Am. J. Hum. Genet . 78 (1): 78–88. doi :10.1086/498851 . PMC 1380225 . PMID 16385451 .
Stenzel N, Fetzer CP, Heumann R, Erdmann KS (2009). "PDZ-domain-directed basolateral targeting of the peripheral membrane protein FRMPD2 in epithelial cells". J. Cell Sci . 122 (Pt 18): 3374–84. doi :10.1242/jcs.046854 . PMID 19706687 .
This article incorporates text from the United States National Library of Medicine , which is in the public domain .